Regulation of 22q11 genes in embryonic and adult forebrain

There is still little understanding of the relationship between genetic mutations and devastating behavioral disorders including autism, mental retardation, attention deficit/hyperactivity disorder (ADHD), mood disorders, and schizophrenia. This project focuses on a mutation that eliminates one out of two copies of a small number of genes on chromosome 22 resulting in a disorder known as DiGeorge, Velo-cardio-facial, or 22q11 Deletion Syndrome in which patients are at highly increased risk for these neurological and psychiatric diseases. The same mutation can be modeled in mice, and one can identify how reduced levels of this relatively small (32-50) set of genes disrupt brain development or function. Thus, these studies help explain how a specific mutation can lead to changes in brain development and function that may underlie autism, mental retardation, ADHD, mood disorders and schizophrenia.